A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537360



Internal ID15155271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:142103779..142353090hg38UCSC Ensembl
Innerchr3:141822621..142071932hg19UCSC Ensembl
Innerchr3:143305311..143554622hg18UCSC Ensembl
Innerchr3:143305319..143554630hg17UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38249312
hg19249312
hg18249312
hg17249312
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460875
Supporting Variants
Samples1780854038_A
Known GenesGK5, TFDP2, XRN1
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv537360
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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